Connexin mutations and hereditary diseases
Y Qiu, J Zheng, S Chen, Y Sun - International Journal of Molecular …, 2022 - mdpi.com
Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …
Noise‐induced hearing loss: updates on molecular targets and potential interventions
H Mao, Y Chen - Neural Plasticity, 2021 - Wiley Online Library
Noise overexposure leads to hair cell loss, synaptic ribbon reduction, and auditory nerve
deterioration, resulting in transient or permanent hearing loss depending on the exposure …
deterioration, resulting in transient or permanent hearing loss depending on the exposure …
Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice
Background Keratitis ichthyosis deafness (KID) syndrome is a rare disorder caused by
hemichannel (HC) activating gain-of-function mutations in the GJB2 gene encoding …
hemichannel (HC) activating gain-of-function mutations in the GJB2 gene encoding …
Failure of hearing acquisition in mice with reduced expression of connexin 26 correlates with the abnormal phasing of apoptosis relative to autophagy and defective …
L Sun, D Gao, J Chen, S Hou, Y Li, Y Huang… - Frontiers in Cellular …, 2022 - frontiersin.org
Mutations in the GJB2 gene that encodes connexin 26 (Cx26) are the predominant cause of
prelingual hereditary deafness, and the most frequently encountered variants cause …
prelingual hereditary deafness, and the most frequently encountered variants cause …
The Cl--channel TMEM16A is involved in the generation of cochlear Ca2+ waves and promotes the refinement of auditory brainstem networks in mice
A Maul, AK Huebner, N Strenzke, T Moser… - Elife, 2022 - elifesciences.org
Before hearing onset (postnatal day 12 in mice), inner hair cells (IHCs) spontaneously fire
action potentials, thereby driving pre-sensory activity in the ascending auditory pathway. The …
action potentials, thereby driving pre-sensory activity in the ascending auditory pathway. The …
A Quantitative Assay for Ca2+ Uptake through Normal and Pathological Hemichannels
Connexin (Cx) hemichannels (HCs) are large pore hexameric structures that allow the
exchange of ions, metabolites and a variety of other molecules between the cell cytoplasm …
exchange of ions, metabolites and a variety of other molecules between the cell cytoplasm …
[HTML][HTML] Harnessing the therapeutic potential of antibodies targeting connexin hemichannels
Background Connexin hemichannels have been implicated in pathology-promoting
conditions, including inflammation, numerous widespread human diseases, including …
conditions, including inflammation, numerous widespread human diseases, including …
Connexin30-deficiency causes mild hearing loss with the reduction of endocochlear potential and ATP release
J Chen, P Chen, B He, T Gong, Y Li, J Zhang… - Frontiers in Cellular …, 2022 - frontiersin.org
GJB2 and GJB6 are adjacent genes encoding connexin 26 (Cx26) and connexin 30 (Cx30),
respectively, with overlapping expressions in the inner ear. Both genes are associated with …
respectively, with overlapping expressions in the inner ear. Both genes are associated with …
Advanced Omics Techniques for Understanding Cochlear Genome, Epigenome, and Transcriptome in Health and Disease
A Tisi, S Palaniappan, M Maccarrone - Biomolecules, 2023 - mdpi.com
Advanced genomics, transcriptomics, and epigenomics techniques are providing
unprecedented insights into the understanding of the molecular underpinnings of the central …
unprecedented insights into the understanding of the molecular underpinnings of the central …
Priming central sound processing circuits through induction of spontaneous activity in the cochlea before hearing onset
CJ Kersbergen, DE Bergles - Trends in neurosciences, 2024 - cell.com
Sensory systems experience a period of intrinsically generated neural activity before
maturation is complete and sensory transduction occurs. Here we review evidence …
maturation is complete and sensory transduction occurs. Here we review evidence …